- First trimester screen: Done between 11 and 14 weeks and all pregnant women are offered the test. This screening is a simple blood test that analyzes the plasma protein A (PAPP-A) and beta human chorionic gonadotropin (beta-HCG). An ultrasound measures the nuchal fold at the back of the baby's neck and examines the nasal bone. This screening is used to assess your baby's risk of Down syndrome, Edward's syndrome, and Patau syndrome, which are all chromosomal abnormalities. This test has an 88% accuracy and a 5% falls-positive risk.
- Cell-Free fetal DNA test: Done at 10 weeks and on. Women 35 or older or those at a high risk for certain chromosomal abnormalities may take this instead of the first trimester screen. This is another simple blood test. It can detect the baby's risk for chromosomal abnormalities such as down syndrome, Edward's syndrome, and Patau syndrome. Something else that is extremely cool about this test is that what it does is it separates the baby's DNA from the mommy's DNA and because of that it can tell you super early the sex of your baby, by looking at the chromosomes! We did this test, not really to find out about chromosomal abnormalities, but because we were so excited to be able to find out the sex of the baby so early! My doctor said that this test will soon take the place of the amnio (see later in the list). This test has up to a 99% accuracy and a false-positive rate as low as 0.1%.
- Chorionic Villus Sampling: This is done between 10 and 14 weeks and is for women whose first trimester screen revealed a potential problem. This is primarily for women who are 35 or older or those who have a family history of a genetic disorder. This test will determine if your baby has a chromosomal abnormality or other genetic disorder, and this test will also tell you the sex of the baby. For this test the doctor will insert a thin, hallow tube through the cervix or a needle into your abdomen to remove a sample of chorionic villi. This process takes about a minute. Now there is a 1% risk of miscarriage for this procedure, so if your main reason behind it is to find out the sex, stick to the Cell-Free fetal DNA test.
- Multiple Marker Screen: This is done between 15 and 20 weeks. This test is for women who didn't take the first trimester screen; those who are at risk for chromosomal abnormalities; and those who had an abnormal ultrasound. But, it could also be the preference of the doctor. My doctor for instance does not offer the first trimester screening unless there is a family history, but she does do the multiple marker screen. This test reveals your baby's risk of having a chromosomal abnormality or a neural-tube defect such as spina bifida. The screen also correctly identifies about 80% of women carrying a baby with Down syndrome, but it also has a false positive in roughly 7% of cases. This tests is done by drawing your blood (yay) and it is analyzed for levels of four substances: maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), estriol, and inhibin A.
- Amnio: This is done any time after 15 weeks gestation and is for women whose previous screening test revealed a potential problem, who are 35 or older, and who are at increased risk for certain conditions. This test is like the CVS test in that it will show whether your baby has a chromosomal issues, and can be used to test for a gene disorder, such as cystic fibrosis. And this can also tell you the baby's sex as well. In this test the doctor inserts a thin, hollow needle into your abdomen to remove some amniotic fluid, which contains cells with baby's chromosomes and DNA. You may feel pinching or stinging and some cramps. It is important to note that there is a 0.5 percent risk of miscarriage as well as a small risk for rupture of the membranes. However, I am not sure how long this test will continue to be in use. According to my doctor the Cell-Free fetal DNA test is most likely going to take the place of the Amnio since it is so accurate and has no risk of miscarriage or membrane rupture. But, we don't know when or if this will actually happen.
- Anatomy Ultrasound: This is by far the best test of them all because you get to see such a detailed ultrasound of your baby! This is done between 18 to 20 weeks and all pregnant women are offered this. With this test you will learn your baby's location and heart rate and your amniotic fluid level. You will also see if certain birth defects (such as heart defect, cleft palate, or limb abnormalities among others) are present. It is also at this time most people find out the sex of the baby if they have not done the other tests. During the screening the doctor or technician (my doctor sends all of her patients to a perinatologist which is someone specifically trained for determining defects through ultrasound and monitoring high risk pregnancies) will conduct a 20-minute sonogram (3D if you're lucky). Key areas like the brain, heart, spine, kidneys and other major organs will be looked at and assessed for abnormalities. My perinatologist was even able to tell us the sex of our first child without a doubt (he showed us her ovaries, and uterus). It is pretty much an ultrasound of your baby while he is still in you! It is the coolest thing ever!
Now it is important to note that these are not all the tests that will be performed by your doctor (such as the test for gestational diabetes). But these are the main ones that you will be talked to ab out. It is also important to note that it is completely up to you and your partner as to what tests you have done, and don't have done. It is important to think about what information you do and do not want to have and when you will want to have it to make any decisions related to your pregnancy. Remember it is your baby and your pregnancy and you have the ultimate say as to what procedures are done.
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